Evidence map›Paper›PMID 34206215›Full record

ArticleGenes2021

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.

Gabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, Sabina Barresi, Gianluca Contrò, Simone Pizzi, Ilenia Maini, Marzia Pollazzon, Carlo Fusco, Silvia Sassi and 7 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
2.0field-weighted citation impact, top 13% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 9 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors at 4 institutions in 1 country.

Gabriele TrimarchiMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Stefano Giuseppe CaraffiMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0002-5033-7854
Francesca Clementina RadioGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.ORCID 0000-0003-1993-8018
Sabina BarresiGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.ORCID 0000-0002-7307-388X
Gianluca ContròMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Simone PizziGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Ilenia MainiUnità Operativa di Psichiatria e Psicologia dell'Infanzia e dell'Adolescenza, DAI-SMDP, AUSL Parma, 43121 Parma, Italy.
Marzia PollazzonMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0002-9865-0751
Carlo FuscoChild Neurology and Psychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Silvia SassiRehabilitation Pediatric Unit, Azienda USL-IRCCS of Reggio Emilia, 42123 Reggio Emilia, Italy.
Davide NicoliMolecular Biology Laboratory, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Manuela NapoliNeuroradiology Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0002-0434-4172
Rosario PascarellaNeuroradiology Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Giancarlo GarganoNeonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Orsetta ZuffardiUnit of Medical Genetics, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0002-1466-4559
Marco TartagliaRehabilitation Pediatric Unit, Azienda USL-IRCCS of Reggio Emilia, 42123 Reggio Emilia, Italy.
Livia GaravelliMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Azienda Sanitaria Unità Locale di Reggio Emilia · ITBambino Gesù Children's Hospital · ITAzienda Unita' Sanitaria Locale di Parma · ITUniversity of Pavia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

One of the recently described syndromes emerging from the massive study of cohorts of undiagnosed patients with autism spectrum disorders (ASD) and syndromic intellectual disability (ID) is White-Sutton syndrome (WHSUS) (MIM #616364), caused by variants in the

Indexed as

Autism Spectrum DisorderCell Cycle ProteinsChromosomes, Human, Pair 1DNA-Binding ProteinsExome SequencingFemaleGenetic Predisposition to DiseaseHumansInfantIntellectual DisabilityMalePolyneuropathiesTransposasesCell Cycle ProteinsDNA-Binding ProteinsPOGZ protein, humanTransposasesadducted thumbperipheral polyneuropathyPOGZWhite–Sutton syndrome

Identifiers

PMID34206215
PMCPMC8303405
OpenAlexW3173698650

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.